Cardiac Amyloidosis: The oft times missed cardiomyopathy - A nurse’s personal story

Submitted by Deborah Miller, RN

Tags: cardiac Cardiac Amyloidosis Cardiac Diagnostic Case Study death disease end of life

Cardiac Amyloidosis: The oft times missed cardiomyopathy - A nurse’s personal story

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Having been in nursing for over 30 years, nothing I had learned in school or through experience would prepare me for the long, misdiagnosed disease my husband suffered that eventually took his life. Forever changing my perspective on healthcare, it has prompted me to share this story with other nurses, hopefully, averting this course for other patients, and possibly one’s own family member.

When I first met my husband Lynn, he was 52. A second marriage and a new start for the both of us with plans and dreams for our future together we hoped to enjoy for many long years. I was working as a homecare nurse with a local hospital for over 10 years when we met. Lynn was retired, but was an active guy and always busy doing something and exercised frequently at the gym.

Lynn had high blood pressure well controlled with medication, along with Lipitor for elevated cholesterol, and type 2 Diabetes managed with diet and exercise. By the time he was 60, he had started to slow down in his activities and became more fatigued with occasional shortness of breath. Our PCP thought he had asthma and prescribed treatment accordingly, but never seemed to help him. In September 2003, he woke up in the morning and complained of chest pain. He said he had been experiencing some shortness of breath also. I took him to the ER at our local hospital. The doctors assessed him as a possible MI patient, and ran all the routine tests. Lynn complained to the doctor that he had been working out heavily with weights in the last week, and on one occasion, felt a sharp sudden blow to the mid chest with some lingering pain, nausea, and SOB. He was admitted for observation and cardiac consult.

His EKG showed depressed T waves, suggesting a possibility of ischemia. He was given 2 doses of Nitro without any affect on the pain. CPK and troponin were slightly elevated but not into the MI range. His CPK was 415 (35-232), and Troponin 0.05 (0.00-0.03). A stress echocardiogram was done and showed moderate concentric left ventricular hypertrophy with evidence of diastolic dysfunctions of the left ventricular filling pattern in tissue. The cardiologist documented, that the stress echo had a low index of suspicion for significant ongoing ischemic cardiac disease or wall motion abnormalities. Unfortunately, the physicians never reviewed an EKG Lynn had 4 yrs earlier that was completely normal. He was discharged home on his usual medications.

For the next 8 months or so, he continued to lose his endurance, gradually becoming more fatigued and short of breath, but neither his cardiologist or PCP could figure out what was wrong. We started to frequent the doctors office more and more due to his increased symptoms without any determinations made as to the cause.

On May 31, 2004, I took Lynn to the ER again with chest pain and dyspnea on exertion. He stated that the chest pain was not associated with exertion. He complained of increasing severe dyspnea on exertion for three days and had trouble climbing the stairs at home. He started to sleep in a recliner more often because of orthopnea.

The ER physician wrote, “It is noteworthy he was hospitalized last fall with chest pain syndrome, but had a normal treadmill test afterwards.” “His EKG showed anterior Q-wave normal sinus rhythm, 1 PAC, nonspecific ST-T wave changes.” “Unfortunately, his CPK is 413, a relative index of 3.5, and troponin normal at 0.04“. He was admitted with a differential diagnosis of acute chest pain syndrome. The doctor was suspicious he had mild congestive heart failure.

On June 1, 2004, a Dobutamine Cardiolite Scintigraphy was conducted. Five minutes into recovery of this test, Lynn developed A-Fib with a rapid ventricular response of 150-180. Cardizem was initiated and he converted to sinus rhythm overnight. Results found no evidence of either ischemia or infarct, normal left ventricular chamber volume, with an ejection fraction at rest of 46%, and with stress, 34%. The report noted, hypokinetic wall motion in the septal and lateral wall segments with normal wall motion in the anterior and posterior wall segments during rest and minimally decreased at stress.

A Transthoracic M-mode and two dimensional Echo was also done during this hospitalization and showed the left ventricular wall thickness markedly increased at 1.8cm, consistent with severe hypertrophy.

This report further stated the parasternal view suggested asymmetry of hypertrophy with relatively more hypertrophy of the septum. The myocardium had a “granular” texture, but not the “speckle” pattern typical of amyloid. After all the tests were completed and reviewed, the cardiologist documented his evaluation as follows, “Shortness of breath with normal ejection fraction on Echo and isotope scan with normal perfusion, and normal valves on echo.” “Concern relates to the patient’s marked and severe left ventricular hypertrophy demonstrated on his echo“. “This raises the possibility, along with low voltage, of possible amyloid heart disease“. Chest pain with persistent elevation of CK MB, a normal Troponin and perfusion scan, it was documented that it could be related to underlying restrictive cardiomyopathy. A SPEP for monoclonal gammopathy/myeloma and a urine for Bence-Jones proteins was ordered, and a recommendation for a fat pad biopsy if symptoms persisted since there remained a concern for Amyloid heart disease. This hospitalization was the first time Amyloid was documented as a possibility, and the last for the next 5yrs!

From 2004-July of 2007, Lynn was repeatedly hospitalized with the progression of symptoms in spite his hypertension being well controlled. He started having increased symptoms of CHF, low endurance, fatigue, bilateral LE edema, and moderate SOB. He slept in the recliner more and more due to orthopnea. We canceled our gym membership because he lacked the endurance to work out. Vacation plans where canceled, along with most activities. We started to stay home more often than not, since he became too tired to do anything or really go anywhere. Our lives started to revolve completely around his unexplained health and cardiac condition. The physicians performed multiple cardiac catheterizations,(which always showed minimal coronary artery disease), sleep apnea tests, evaluations by endocrinologists for pituitary and thyroid problems, repeated cardio versions for reoccurring A-fib, frequent EKG’s, Echo’s, chest x-rays, blood tests, anticoagulation therapy, along with an array of multiple cardiac medications to manage his symptoms. In July 2006, the physicians documented that his elevated CK-MB was his normal blood level because there was no evidence of MI or coronary artery disease!

In July 2007, after much frustration of the inability to maintain sinus rhythm in spite of all non-invasive tx, Lynn’s PCP and local Cardiologist referred him to a large hospital in Sacramento for a bilateral Thorascopic Maze procedure for unmanageable A-fib. We were hoping this would be the cure-all as did the physicians. The surgeon and the electrophysiologist were confident of their plan to eliminate Lynn’s A-fib for good and he would return to a normal life again. During the surgery, the left atrial appendage was removed and sent for biopsy with a detailed report later returned to the ordering physician, but apparently not reviewed. After the maze procedure, his congestive heart failure seemed to worsen which puzzled the physicians, but with medications he rallied and was home in a few days. He seemed to be feeling good, but that was short lived as he developed A-fib again. At one point it converted on its own, but overtime the A-fib became a continuous problem again, prompting repeated cardiac ablations over the next 2yrs and continued hospitalizations with increasing symptoms of CHF, SOB, SVT, chest pain, bilateral lower extremity edema, fatigue, and dizziness. His Echo’s and EKG’s showed progression of ventricular hypertrophy, diminishing ejection fraction, and increasingly abnormal cardiac lab values.

By spring of 2009, Lynn was severely ill with no relief of symptoms, progressed into end stage heart failure in spite of all treatment, and started experiencing episodes of near syncope and hypotension. His disease was becoming very unmanageable and frequent phone calls to the triage nurse or physician along with repeated visits to the cardiologist, electrophysiologist, and our family physician, became a way of life as we tried to contain his worsening condition.

In August 2009, a CardioNet monitor worn for 3 wks showed non sustained ventricular tachycardia lasting 23 beats at a rate of 115/minute. I took Lynn to the electrophysiologist on December 3, 2009 with A- fib again. The physician was just stumped as to why after so many ablations, Lynn was still reverting back into A-fib. After reading through his medical records and consulting with the surgeon, a cardiac MRI was ordered and done on Dec 12, to help rule out constrictive pericarditis. His physician documented that Lynn’s clinical picture had been confusing with variable results both in terms of Echo, ejection fraction determinations, as well as his clinical status. He further documented that Lynn’s condition was still not clear in terms of etiology of his symptoms and recurrent A-fib following a totally thoracoscopic maze procedure. The physician was considering an AV nodal ablation with insertion of a biventricular pacing defibrillator next.

On December 12, 2009, the cardiac MRI was done. The results were devastating. The report stated that Lynn had severe diffuse hypertrophic cardiomyopathy. Regions of the interventricular septum measured as thick as 3cm, regions of the LV apex measured approx 2.5 cm in thickness, and the lateral wall of the LV measured up to 3cm in thickness, The free wall of the RV measured up to 9mm in thickness, and the left ventricular mass measured 434gm! RV ejection fraction was 32%, LV ejection fraction of 42%, generalized right and left ventricular hypokinesis, akinesis of the high interventricular septum. The pattern of abnormal delayed gadolinium enhancement was not typical of the idiopathic form of hypertrophic cardiomyopathy. The pattern of enhancement, uniform involvement of the right ventricle and the abnormal thickening of the free wall of the right atrium suggests the diagnosis of Cardiac Amyloid.

An endomyocardial biopsy was done on December 22, 2009. The biopsy confirmed the diagnosis of Cardiac Amyloid. The pathologist sent an addendum to the ordering physician and electrophysiologist referencing the faxed copy of the atrial appendage excision biopsy of 2007, which showed “abundant amyloid deposits located within subendocardium, interstitial and around small intramyocardial vessels” The addendum went on to state, “this prior biopsy would support our impression of amyloidosis involving the heart”.

After 6 yrs, a diagnosis was realized by everyone involved in his care. By this time, my husband was 66 yrs old, and according to the large hospital where he was being seen, too old for a heart transplant. Racing against the clock, I started researching hospitals who specialized in Cardiac Amyloid. I found that Stanford Hospital, specialized in Cardiac Amyloid. Calls were made, and my husband was quickly seen and after more tests and evaluations, Lynn’s final diagnosis was end stage heart failure from Transthyretin Senile Cardiac Amyloidosis . He was then placed on the heart transplant list. A defibrillator was placed due to the risk for the potentially life threatening ventricular arrhythmia. Lynn was admitted to Stanford Hospital in June 2010, because his condition had deteriorated to the point he needed to be monitored 24/7 and started on inotropes in the CSU/CCU. Lynn received a heart transplant on July 12, 2010. Because he was so ill, in such a weakened condition prior to transplant, and in spite of the dedication and heroics of his Stanford physicians and nurses, he unfortunately died on July 6, 2011, from multiple complications.

Cardiac amyloid causes a restrictive cardiomyopathy from insoluble protein deposits in the myocardium. There are five types of amyloidosis. Primary systemic amyloidosis, secondary systemic amyloidosis, senile amyloidosis, hereditary amyloidosis, and hemodialysis-related amyloidosis.

Lynn’s final diagnosis was transthyretin(wild type) senile cardiac amyloid. The abnormal protein deposits in the heart were coming from the liver. This type had many clinical features and many of the same symptoms of Primary (AL) amyloidosis. AL is the most common form and is associated with a plasma cell dyscrasia. This was the difference and why the SPEP for monoclonal gammopathy/myeloma and a urine for Bence-Jones proteins that was ordered was negative for AL amyloidosis.

Cardiac manifestations include congestive heart failure due to restrictive cardiomyopathy, vascular abnormalities, autonomic dysfunction, and conduction abnormalities. Because Echo findings of cardiac amyloid can mimic other causes of LVH, it’s useful to combine other methods for identifying cardiac amyloid. Comparing the voltage on the EKG and the wall thickness on the Echo can identify patients with infiltrative cardiomyopathy. Other clinical features include chest discomfort or pain not typical of angina and is associated with CHF. Troponin elevation represents ongoing myocte necrosis, A-fib, and most commonly the left ventricle is thickened to a degree that is disproportionate to the degree of current or prior hypertension. EKG findings include low-voltage QRS amplitudes in the precordial leads or limb leads, a pseudo infarction pattern, and conduction delays. Arrhythmias, such as A-fib, atrial flutter, V-tach, AV block, prolonged QT interval, and junctional rhythm are common.

Echocardiography can highlight increased atrial septal wall thickening and the granular sparkling myocardium that is highly specific for differentiating cardiac amyloidosis from other causes of LVH.
Both atria are typically dilated and the ventricular chamber dimensions are normal. Depressed systolic function can be seen with extensive disease. Cardiac catheterization of a patient with cardiac amyloid is usually normal .

Lynn’s early and later symptoms of cardiac amyloidosis was textbook classic. Though I was a nurse, I was consumed in my role as wife and caregiver. I never read his medical records during this period. It wasn’t until after he died, I delved into his records to study what went wrong in his care. I knew the physicians who cared for him and felt they were doing their best. I trusted them completely and though I asked questions frequently a nurse or wife would ask, I never considered following up on their care and reading their documentation or reviewing the results and findings of the many tests Lynn underwent.

In retrospect, had all the physicians involved at our local hospital taken the time to review his medical records they would have seen something was very abnormal, that suspicion of cardiac amyloid had been documented in the past, and considering how sick he was becoming, he could have been referred to another hospital for further testing. It is never normal for anyone to have consistently elevated cardiac enzymes that are fluctuating without a reason. Nor is it normal for someone who had a normal EKG few years earlier suddenly develop conduction problems without a cause. I believe, had the surgeon and electrophysiologist reviewed and acted on the biopsy report of 2007, all further useless treatment, ablations, along with all the procedures, pain, undue stress and suffering of my husband would have been halted and a referral to a medical center that specialized in cardiac amyloid would have been made sooner, with earlier treatment that could have saved his life. From what I was told, Lynn would have had a liver transplant years earlier instead of a rushed heart transplant due to such a late diagnosis in his case.

After the death of my husband, I made an appointment to meet with the Medical Director at my local hospital and the last physician who treated him there. I reviewed with them, the multiple hospitalizations, clinical course and misdiagnosis of his disease for 6 yrs, and requested that in-services be held for physicians on staff to acquaint them with this disease, so that another patient would never have to experience what my husband went through. I was assured my request would be honored, and that he would use Lynn’s hospital course and diagnosis as a case study.

Though it has been over 2 years since Lynn’s death, I still miss him and am troubled by the course and outcome of his medical care. My faith carried me through those harrowing times, and I believe everything happens for a reason, and there is a greater purpose in God’s plan for us. I also realize the best way I can heal is to share this story with others, especially nurses, because we are patient advocates and most times the first line of defense for our patients and family members. If somewhere, sometime, just one nurse recognizes this disease in a clinical setting, and is able to facilitate the timely diagnosis and intervention of just one patient or loved one, it will be comforting to know some good came out of the bad, and my husband’s death was not in vain. This is truly my hope.

Deborah Miller, RN


1. Rodney H. Falk. Diagnosis and Management of the Cardiac Amyloidosis.
AHA 2005;112:2047-2060

2. Keyur B. Shah, MD; Yoshio Inoue, MD; Mandeep R. Mehra, MD.
Amyloidosis and the Heart. AMA, Arch Intern Med 2006;166:1805-1813